Peripheral intraaxonal storage in Tay-Sachs' disease (GM2-gangliosidosis type 1.

Considerable intraaxonal lipid storage was observed in intramuscular nerve fibres mainly of the extraocular muscles and less frequently in limb muscles of a 3-year-old child, which had suffered from Tay-Sachs' disease. Many axons of the small intramuscular nerve twigs and of the terminal and preterminal nerve endings showed spherical and cylindrical enlargements containing granular storage material of the same staining properties as the material in the central nervous system. The identify of the axonal and the neuronal storage material was further confirmed by electron-microscopical demonstration of typical multilamellated cytoplasmic bodies (MCBs) in both of them. In addition, silver impregnation and electron microscopy revealed dystrophic changes with an increase of argyrophilic filamentous material within some of the axonal distensions, indicating that the latter were probably due to both a lipid storage and an unspecific dystrophic process.